Aliases for SALL1 Gene
External Ids for SALL1 Gene
Previous HGNC Symbols for SALL1 Gene
Previous GeneCards Identifiers for SALL1 Gene
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SALL1 Gene
SALL1 (Spalt Like Transcription Factor 1) is a Protein Coding gene. Diseases associated with SALL1 include Townes-Brocks Syndrome 1 and Townes-Brocks Syndrome. Among its related pathways are Transcriptional regulation of pluripotent stem cells and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and beta-catenin binding. An important paralog of this gene is SALL3.
UniProtKB/Swiss-Prot Summary for SALL1 Gene
Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development.